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J Comput Biol. 2016 Dec;23(12):969-975. doi: 10.1089/cmb.2016.0058. Epub 2016 Jun 16.
2
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.胚系 PTEN 突变与自闭症相关的构象动力学和变构调节景观与与癌症相关的突变相比。
Am J Hum Genet. 2019 May 2;104(5):861-878. doi: 10.1016/j.ajhg.2019.03.009. Epub 2019 Apr 18.
3
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.神经发育障碍和巨头症中的新型PTEN突变
Clin Genet. 2009 Feb;75(2):195-8. doi: 10.1111/j.1399-0004.2008.01074.x. Epub 2008 Aug 26.
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Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.磷酸酶和张力蛋白同源物(PTEN)基因突变与自闭症:文献综述及1例考登综合征、自闭症谱系障碍和癫痫患者的病例报告
J Child Neurol. 2012 Mar;27(3):392-7. doi: 10.1177/0883073811420296. Epub 2011 Sep 29.
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Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.与癌症和自闭症谱系障碍相关的PTEN变体的构象稳定性和催化活性。
Biochemistry. 2015 Feb 24;54(7):1576-82. doi: 10.1021/acs.biochem.5b00028. Epub 2015 Feb 13.
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A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.PTEN 突变的综合功能分析:在肿瘤和自闭症相关综合征中的意义。
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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.患有自闭症谱系障碍且伴有极端巨头畸形的个体亚组,与生殖系PTEN肿瘤抑制基因突变有关。
J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646.
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Genomic deletion of PTEN is associated with tumor progression and early PSA recurrence in ERG fusion-positive and fusion-negative prostate cancer.PTEN 基因缺失与 ERG 融合阳性和融合阴性前列腺癌中肿瘤进展和早期 PSA 复发相关。
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Impact of PTEN IVS4 Polymorphism (rs3830675) on Cancer Susceptibility: An Updated Meta-analysis.PTEN基因内含子4多态性(rs3830675)对癌症易感性的影响:一项更新的荟萃分析。
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Variation benchmark datasets: update, criteria, quality and applications.变异基准数据集:更新、标准、质量和应用。
Database (Oxford). 2020 Jan 1;2020. doi: 10.1093/database/baz117.
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Toward Systems Pathology for PTEN Diagnostics.迈向 PTEN 诊断的系统病理学。
Cold Spring Harb Perspect Med. 2020 May 1;10(5):a037127. doi: 10.1101/cshperspect.a037127.

本文引用的文献

1
Improving prediction of secondary structure, local backbone angles, and solvent accessible surface area of proteins by iterative deep learning.通过迭代深度学习改进蛋白质二级结构、局部主链角度和溶剂可及表面积的预测。
Sci Rep. 2015 Jun 22;5:11476. doi: 10.1038/srep11476.
2
Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.与癌症和自闭症谱系障碍相关的PTEN变体的构象稳定性和催化活性。
Biochemistry. 2015 Feb 24;54(7):1576-82. doi: 10.1021/acs.biochem.5b00028. Epub 2015 Feb 13.
3
Yeast-based methods to assess PTEN phosphoinositide phosphatase activity in vivo.基于酵母的体内评估PTEN磷酸肌醇磷酸酶活性的方法。
Methods. 2015 May;77-78:172-9. doi: 10.1016/j.ymeth.2014.10.020. Epub 2014 Oct 25.
4
COSMIC: exploring the world's knowledge of somatic mutations in human cancer.COSMIC:探索全球关于人类癌症体细胞突变的知识。
Nucleic Acids Res. 2015 Jan;43(Database issue):D805-11. doi: 10.1093/nar/gku1075. Epub 2014 Oct 29.
5
Single nucleotide variations: biological impact and theoretical interpretation.单核苷酸变异:生物学影响与理论阐释
Protein Sci. 2014 Dec;23(12):1650-66. doi: 10.1002/pro.2552. Epub 2014 Oct 20.
6
VarMod: modelling the functional effects of non-synonymous variants.VarMod:建模非同义变体的功能效应。
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W331-6. doi: 10.1093/nar/gku483. Epub 2014 Jun 6.
7
PTEN.PTEN.
Annu Rev Biochem. 2014;83:641-69. doi: 10.1146/annurev-biochem-082411-113907.
8
SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features.SuSPect:利用网络特征增强对单氨基酸变异(SAV)表型的预测。
J Mol Biol. 2014 Jul 15;426(14):2692-701. doi: 10.1016/j.jmb.2014.04.026. Epub 2014 May 5.
9
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.人类基因突变数据库:为临床和分子遗传学、诊断测试以及个性化基因组医学构建全面的基因突变知识库。
Hum Genet. 2014 Jan;133(1):1-9. doi: 10.1007/s00439-013-1358-4.
10
Interactome3D: adding structural details to protein networks.Interactome3D:为蛋白质网络添加结构细节。
Nat Methods. 2013 Jan;10(1):47-53. doi: 10.1038/nmeth.2289. Epub 2012 Dec 16.

PTENpred:一种用于预测与PTEN相关疾病的设计蛋白影响预测工具。

PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders.

作者信息

Johnston Sean B, Raines Ronald T

机构信息

1 Department of Biochemistry, University of Wisconsin-Madison , Madison, Wisconsin.

2 Department of Chemistry, University of Wisconsin-Madison , Madison, Wisconsin.

出版信息

J Comput Biol. 2016 Dec;23(12):969-975. doi: 10.1089/cmb.2016.0058. Epub 2016 Jun 16.

DOI:10.1089/cmb.2016.0058
PMID:27310656
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5144848/
Abstract

Connecting a genotype with a phenotype can provide immediate advantages in the context of modern medicine. Especially useful would be an algorithm for predicting the impact of nonsynonymous single-nucleotide polymorphisms in the gene for PTEN, a protein that is implicated in most human cancers and connected to germline disorders that include autism. We have developed a protein impact predictor, PTENpred, that integrates data from multiple analyses using a support vector machine algorithm. PTENpred can predict phenotypes related to a human PTEN mutation with high accuracy. The output of PTENpred is designed for use by biologists, clinicians, and laymen, and features an interactive display of the three-dimensional structure of PTEN. Using knowledge about the structure of proteins, in general, and the PTEN protein, in particular, enables the prediction of consequences from damage to the human PTEN gene. This algorithm, which can be accessed online, could facilitate the implementation of effective therapeutic regimens for cancer and other diseases.

摘要

将基因型与表型联系起来在现代医学背景下能带来直接优势。对于预测PTEN基因中非同义单核苷酸多态性的影响而言,一种算法会特别有用,PTEN是一种与大多数人类癌症相关且与包括自闭症在内的种系疾病有关的蛋白质。我们开发了一种蛋白质影响预测工具PTENpred,它使用支持向量机算法整合来自多种分析的数据。PTENpred能够高精度地预测与人类PTEN突变相关的表型。PTENpred的输出旨在供生物学家、临床医生和外行使用,其特点是交互式展示PTEN的三维结构。一般来说,利用关于蛋白质结构的知识,特别是关于PTEN蛋白的知识,能够预测人类PTEN基因受损的后果。这种可在线获取的算法有助于实施针对癌症和其他疾病的有效治疗方案。